MCID: SRF003
MIFTS: 31

Surfactant Metabolism Dysfunction, Pulmonary, 2

Categories: Genetic diseases, Respiratory diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 2

MalaCards integrated aliases for Surfactant Metabolism Dysfunction, Pulmonary, 2:

Name: Surfactant Metabolism Dysfunction, Pulmonary, 2 57 29 13 6 73
Interstitial Lung Disease Due to Surfactant Protein C Deficiency 57 59 75
Desquamative Interstitial Pneumonitis Due to Surfactant Protein C Deficiency 57 75
Smdp2 57 75
Chronic Respiratory Distress with Surfactant Metabolism Deficiency 59
Surfactant Metabolism Dysfunction, Pulmonary, Type 2 40
Interstitial Lung Disease Due to Sp-C Deficiency 59
Pulmonary Alveolar Proteinosis, Congenital, 2 57
Pulmonary Surfactant Metabolism Dysfunction 2 75
Congenital Pulmonary Alveolar Proteinosis 2 75
Pap 75

Characteristics:

Orphanet epidemiological data:

59
chronic respiratory distress with surfactant metabolism deficiency
Inheritance: Autosomal dominant; Age of onset: All ages;
interstitial lung disease due to sp-c deficiency
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
reduced penetrance
progressive disease
occurs in full-term newborns
highly variable pathologic phenotype
onset in the first months of life
respiratory distress may be precipitated by viral respiratory infection
some patients may live to adulthood
favorable response to hydroxychloroquine treatment


HPO:

32
surfactant metabolism dysfunction, pulmonary, 2:
Onset and clinical course incomplete penetrance
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare respiratory diseases


Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 2

UniProtKB/Swiss-Prot : 75 Pulmonary surfactant metabolism dysfunction 2: A rare disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course, due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress.

MalaCards based summary : Surfactant Metabolism Dysfunction, Pulmonary, 2, also known as interstitial lung disease due to surfactant protein c deficiency, is related to pulmonary alveolar proteinosis, acquired and surfactant metabolism dysfunction, pulmonary, 4, and has symptoms including cyanosis, dyspnea and respiratory distress. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 2 is SFTPC (Surfactant Protein C). Affiliated tissues include lung, and related phenotypes are cyanosis and clubbing

OMIM : 57 Surfactant protein C (SPC) deficiency is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein (Thomas et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120). (610913)

Related Diseases for Surfactant Metabolism Dysfunction, Pulmonary, 2

Diseases in the Surfactant Metabolism Dysfunction, Pulmonary, 2 family:

Surfactant Metabolism Dysfunction, Pulmonary, 1 Surfactant Metabolism Dysfunction, Pulmonary, 4
Surfactant Metabolism Dysfunction, Pulmonary, 3 Surfactant Metabolism Dysfunction, Pulmonary, 5

Diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis, acquired 11.8
2 surfactant metabolism dysfunction, pulmonary, 4 11.7
3 surfactant metabolism dysfunction, pulmonary, 5 11.6
4 surfactant metabolism dysfunction, pulmonary, 1 11.5
5 pulmonary alveolar proteinosis 11.3
6 cervical cancer 11.3
7 vaginal cancer 11.2
8 pituitary adenoma 1, multiple types 11.0
9 polydactyly, postaxial, type a1 10.8
10 cervix disease 10.8
11 brachyolmia type 1, toledo type 10.8
12 surfactant metabolism dysfunction, pulmonary, 3 10.8
13 interstitial lung and liver disease 10.8
14 congenital pulmonary alveolar proteinosis 10.8
15 hereditary pulmonary alveolar proteinosis 10.8
16 secondary pulmonary alveolar proteinosis 10.8
17 cervicitis 10.5
18 prostatitis 10.3
19 adenocarcinoma 10.2
20 pancreatitis 10.2
21 prostate cancer 10.1
22 cervix uteri carcinoma in situ 10.1
23 cervical intraepithelial neoplasia 10.1
24 aging 10.1
25 vaginitis 10.1
26 interstitial lung disease 10.1
27 protein c deficiency 10.1
28 lung disease 10.1
29 bacterial vaginosis 10.0
30 chlamydia 9.9
31 adenocarcinoma in situ 9.9
32 endocervicitis 9.9
33 cystic fibrosis 9.9
34 pyelonephritis 9.9
35 small cell carcinoma 9.8
36 squamous cell carcinoma 9.8
37 acute pancreatitis 9.8
38 cervical adenocarcinoma 9.8
39 breast cancer 9.7
40 breast reconstruction 9.7
41 dengue hemorrhagic fever 9.7
42 sleep apnea 9.7
43 endocervical adenocarcinoma 9.7
44 endometritis 9.7
45 candidiasis 9.7
46 trichomoniasis 9.7
47 vulvovaginal candidiasis 9.7
48 vulvovaginitis 9.7
49 papilloma 9.7
50 endometrial adenocarcinoma 9.7

Graphical network of the top 20 diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 2:



Diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 2

Symptoms & Phenotypes for Surfactant Metabolism Dysfunction, Pulmonary, 2

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Skin Nails Hair Skin:
cyanosis

Skeletal Hands:
digital clubbing

Respiratory:
dyspnea
respiratory distress
tachypnea

Respiratory Lung:
alveolar proteinosis
interstitial fibrosis
alveoli filled with granular or foamy surfactant protein exudate
alveoli contain desquamated type ii pneumocytes and macrophages
type ii pneumocyte hyperplasia
more
Growth Weight:
poor weight gain in infancy


Clinical features from OMIM:

610913

Human phenotypes related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cyanosis 32 HP:0000961
2 clubbing 32 HP:0001217
3 failure to thrive 32 HP:0001508
4 respiratory distress 32 HP:0002098
5 recurrent respiratory infections 32 HP:0002205
6 tachypnea 32 HP:0002789
7 tubulointerstitial fibrosis 32 HP:0005576
8 interstitial pneumonitis 32 HP:0006515
9 alveolar proteinosis 32 HP:0006517

UMLS symptoms related to Surfactant Metabolism Dysfunction, Pulmonary, 2:


cyanosis, dyspnea, respiratory distress

Drugs & Therapeutics for Surfactant Metabolism Dysfunction, Pulmonary, 2

Search Clinical Trials , NIH Clinical Center for Surfactant Metabolism Dysfunction, Pulmonary, 2

Genetic Tests for Surfactant Metabolism Dysfunction, Pulmonary, 2

Genetic tests related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

# Genetic test Affiliating Genes
1 Surfactant Metabolism Dysfunction, Pulmonary, 2 29 SFTPC

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 2

MalaCards organs/tissues related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

41
Lung

Publications for Surfactant Metabolism Dysfunction, Pulmonary, 2

Articles related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

# Title Authors Year
1
Childhood interstitial lung disease due to surfactant protein C deficiency: frequent use and costs of hospital services for a single case in Australia. ( 24642012 )
2014

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 2

UniProtKB/Swiss-Prot genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 2:

75
# Symbol AA change Variation ID SNP ID
1 SFTPC p.Ile73Thr VAR_026753
2 SFTPC p.Ala116Asp VAR_026754
3 SFTPC p.Arg167Gln VAR_026755 rs34957318
4 SFTPC p.Leu188Gln VAR_026756
5 SFTPC p.Glu66Lys VAR_036855

ClinVar genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 2:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 SFTPC SFTPC, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
2 SFTPC NM_003018.3(SFTPC): c.218T> C (p.Ile73Thr) single nucleotide variant Pathogenic rs121917834 GRCh37 Chromosome 8, 22020609: 22020609
3 SFTPC NM_003018.3(SFTPC): c.218T> C (p.Ile73Thr) single nucleotide variant Pathogenic rs121917834 GRCh38 Chromosome 8, 22163096: 22163096
4 SFTPC NM_003018.3(SFTPC): c.563T> A (p.Leu188Gln) single nucleotide variant Pathogenic rs121917835 GRCh37 Chromosome 8, 22021523: 22021523
5 SFTPC NM_003018.3(SFTPC): c.563T> A (p.Leu188Gln) single nucleotide variant Pathogenic rs121917835 GRCh38 Chromosome 8, 22164010: 22164010
6 SFTPC SFTPC, IVS4DS, G-T, +1 single nucleotide variant Pathogenic
7 SFTPC NM_003018.3(SFTPC): c.347C> A (p.Ala116Asp) single nucleotide variant Pathogenic rs121918559 GRCh37 Chromosome 8, 22020971: 22020971
8 SFTPC NM_003018.3(SFTPC): c.347C> A (p.Ala116Asp) single nucleotide variant Pathogenic rs121918559 GRCh38 Chromosome 8, 22163458: 22163458
9 SFTPC NM_003018.3(SFTPC): c.196G> A (p.Glu66Lys) single nucleotide variant Pathogenic rs121917836 GRCh37 Chromosome 8, 22020240: 22020240
10 SFTPC NM_003018.3(SFTPC): c.196G> A (p.Glu66Lys) single nucleotide variant Pathogenic rs121917836 GRCh38 Chromosome 8, 22162727: 22162727
11 SFTPC NM_003018.3(SFTPC): c.581T> C (p.Leu194Pro) single nucleotide variant Pathogenic rs121918560 GRCh37 Chromosome 8, 22021541: 22021541
12 SFTPC NM_003018.3(SFTPC): c.581T> C (p.Leu194Pro) single nucleotide variant Pathogenic rs121918560 GRCh38 Chromosome 8, 22164028: 22164028
13 SFTPC NM_003018.3(SFTPC): c.115G> T (p.Val39Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183533911 GRCh37 Chromosome 8, 22020159: 22020159
14 SFTPC NM_003018.3(SFTPC): c.115G> T (p.Val39Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183533911 GRCh38 Chromosome 8, 22162646: 22162646

Expression for Surfactant Metabolism Dysfunction, Pulmonary, 2

Search GEO for disease gene expression data for Surfactant Metabolism Dysfunction, Pulmonary, 2.

Pathways for Surfactant Metabolism Dysfunction, Pulmonary, 2

GO Terms for Surfactant Metabolism Dysfunction, Pulmonary, 2

Molecular functions related to Surfactant Metabolism Dysfunction, Pulmonary, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.62 BMP1 SFTPC

Sources for Surfactant Metabolism Dysfunction, Pulmonary, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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